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1دورية أكاديمية
المؤلفون: Florian R. T., Kraft F., Leitao E., Kaya S., Klebe S., Magnin E., van Rootselaar A. -F., Buratti J., Kuhnel T., Schroder C., Giesselmann S., Tschernoster N., Altmueller J., Lamiral A., Keren B., Nava C., Bouteiller D., Forlani S., Jornea L., Kubica R., Ye T., Plassard D., Jost B., Meyer V., Deleuze J. -F., Delpu Y., Avarello M. D. M., Vijfhuizen L. S., Rudolf G., Hirsch E., Kroes T., Reif P. S., Rosenow F., Ganos C., Vidailhet M., Thivard L., Mathieu A., Bourgeron T., Kurth I., Rafehi H., Steenpass L., Horsthemke B., Berkovic S. F., Bisulli F., Brancati F., Canafoglia L., Casari G., Guerrini R., Ishiura H., Licchetta L., Mei D., Pippucci T., Sadleir L., Scheffer I. E., Striano P., Tinuper P., Tsuji S., Zara F., LeGuern E., Klein K. M., Labauge P., Bennett M. F., Bahlo M., Gecz J., Corbett M. A., Tijssen M. A. J., van den Maagdenberg A. M. J. M., Depienne C.
المساهمون: Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J. -F., Delpu, Y., Avarello, M. D. M., Vijfhuizen, L. S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P. S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S. F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I. E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., Leguern, E., Klein, K. M., Labauge, P., Bennett, M. F., Bahlo, M., Gecz, J., Corbett, M. A., Tijssen, M. A. J., van den Maagdenberg, A. M. J. M., Depienne, C.
وصف الملف: STAMPA
العلاقة: info:eu-repo/semantics/altIdentifier/pmid/31664039; info:eu-repo/semantics/altIdentifier/wos/WOS:000493042500009; volume:10 - Article number: 4919 (2019); firstpage:4919; lastpage:4929; numberofpages:11; journal:NATURE COMMUNICATIONS; http://hdl.handle.net/11567/1022007Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-85074285073
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2دورية أكاديمية
المؤلفون: Florian, RT, Kraft, F, Leitao, E, Kaya, S, Klebe, S, Magnin, E, van Rootselaar, A-F, Buratti, J, Kuehnel, T, Schroeder, C, Giesselmann, S, Tschernoster, N, Altmueller, J, lamiral, A, Keren, B, Nava, C, Bouteiller, D, Forlani, S, Jornea, L, Kubica, R, Ye, T, Plassard, D, Jost, B, Meyer, V, Deleuze, J-F, Delpu, Y, Avarello, MDM, Vijfhuizen, LS, Rudolf, G, Hirsch, E, Kroes, T, Reif, PS, Rosenow, F, Ganos, C, Vidailhet, M, Thivard, L, Mathieu, A, Bourgeron, T, Kurth, I, Rafehi, H, Steenpass, L, Horsthemke, B, Berkovic, SF, Bisulli, F, Brancati, F, Canafoglia, L, Casari, G, Guerrini, R, Ishiura, H, Licchetta, L, Mei, D, Pippucci, T, Sadleir, L, Scheffer, IE, Striano, P, Tinuper, P, Tsuji, S, Zara, F, LeGuern, E, Klein, KM, Labauge, P, Bennett, MF, Bahlo, M, Gecz, J, Corbett, MA, Tijssen, MAJ, van den Maagdenberg, AMJM, Depienne, C
العلاقة: pii: 10.1038/s41467-019-12763-9; Florian, R. T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., van Rootselaar, A. -F., Buratti, J., Kuehnel, T., Schroeder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L. ,. Depienne, C. (2019). Unstable TTTTA/TTTCA expansions in MARCH6 are associated with Familial Adult Myoclonic Epilepsy type 3. NATURE COMMUNICATIONS, 10 (1), https://doi.org/10.1038/s41467-019-12763-9Test.; http://hdl.handle.net/11343/245207Test
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المؤلفون: Nava, C, Lamari, F, Héron, D, Mignot, C, Rastetter, A, Keren, B, Cohen, D, Faudet, A, Bouteiller, D, Gilleron, M, Jacquette, A, Whalen, S, Afenjar, A, Périsse, D, Laurent, C, Dupuits, C, Gautier, C, Gérard, M, Huguet, G, Caillet, S, Leheup, B, Leboyer, Marion, Gillberg, Christopher, 1950, Delorme, Richard, Bourgeron, Thomas, Brice, A, Depienne, C
المصدر: Translational psychiatry. 2
مصطلحات موضوعية: Psychiatry, Psykiatri
وصف الملف: electronic
الوصول الحر: https://gup.ub.gu.se/publication/167924Test
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المؤلفون: Florian, R.T., Kraft, F., Leitao, E., Kaya, S., Klebe, S., Magnin, E., Rootselaar, A.F. van, Buratti, J., Kuhnel, T., Schroder, C., Giesselmann, S., Tschernoster, N., Altmueller, J., Lamiral, A., Keren, B., Nava, C., Bouteiller, D., Forlani, S., Jornea, L., Kubica, R., Ye, T., Plassard, D., Jost, B., Meyer, V., Deleuze, J.F., Delpu, Y., Avarello, M.D.M., Vijfhuizen, L.S., Rudolf, G., Hirsch, E., Kroes, T., Reif, P.S., Rosenow, F., Ganos, C., Vidailhet, M., Thivard, L., Mathieu, A., Bourgeron, T., Kurth, I., Rafehi, H., Steenpass, L., Horsthemke, B., Berkovic, S.F., Bisulli, F., Brancati, F., Canafoglia, L., Casari, G., Guerrini, R., Ishiura, H., Licchetta, L., Mei, D., Pippucci, T., Sadleir, L., Scheffer, I.E., Striano, P., Tinuper, P., Tsuji, S., Zara, F., LeGuern, E., Klein, K.M., Labauge, P., Bennett, M.F., Bahlo, M., Gecz, J., Corbett, M.A., Tijssen, M.A.J., Maagdenberg, A.M.J.M. van den, Depienne, C., FAME Consortium
المصدر: Nature Communications, 10. NATURE PUBLISHING GROUP
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::af7f29afbc8c65e9c77fbc8e77c8116cTest
https://hdl.handle.net/1887/122248Test -
5دورية أكاديمية
المؤلفون: Depienne, C, Heron, D, Betancur, C, Benyahia, B, Trouillard, O, Bouteiller, D, Verloes, A, LeGuern, E, Leboyer, M, Brice, A
مصطلحات موضوعية: case-report
وصف الملف: text/html
العلاقة: http://casereports.bmj.com/cgi/content/short/2009/jun18_1/bcr0520091911Test; http://dx.doi.org/10.1136/bcr.05.2009.1911Test
الإتاحة: https://doi.org/10.1136/bcr.05.2009.1911Test
http://casereports.bmj.com/cgi/content/short/2009/jun18_1/bcr0520091911Test -
6دورية أكاديمية
المؤلفون: Depienne, C, Trouillard, O, Saint-Martin, C, Gourfinkel-An, I, Bouteiller, D, Carpentier, W, Keren, B, Abert, B, Gautier, A, Baulac, S, Arzimanoglou, A, Cazeneuve, C, Nabbout, R, LeGuern, E
مصطلحات موضوعية: Letters to JMG
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/46/3/183Test; http://dx.doi.org/10.1136/jmg.2008.062323Test
الإتاحة: https://doi.org/10.1136/jmg.2008.062323Test
http://jmg.bmj.com/cgi/content/short/46/3/183Test -
7دورية أكاديميةExhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia
المؤلفون: Clot, F., Grabli, D., Cazeneuve, C., Roze, E., Castelnau, P., Chabrol, B., Landrieu, P., Nguyen, K., Ponsot, G., Abada, M., Doummar, D., Damier, P., Gil, R., Thobois, S., Ward, A. J., Hutchinson, M., Toutain, A., Picard, F., Camuzat, A., Fedirko, E., San, C., Bouteiller, D., LeGuern, E., Durr, A., Vidailhet, M., Brice, A.
المصدر: Brain ; volume 132, issue 7, page 1753-1763 ; ISSN 0006-8950 1460-2156
مصطلحات موضوعية: Neurology (clinical)
الإتاحة: https://doi.org/10.1093/brain/awp084Test
http://academic.oup.com/brain/article-pdf/132/7/1753/927554/awp084.pdfTest -
8دورية أكاديمية
المؤلفون: Depienne, C, Heron, D, Betancur, C, Benyahia, B, Trouillard, O, Bouteiller, D, Verloes, A, LeGuern, E, Leboyer, M, Brice, A
مصطلحات موضوعية: Letters to JMG
وصف الملف: text/html
العلاقة: http://jmg.bmj.com/cgi/content/short/44/7/452Test; http://dx.doi.org/10.1136/jmg.2006.047092Test
الإتاحة: https://doi.org/10.1136/jmg.2006.047092Test
http://jmg.bmj.com/cgi/content/short/44/7/452Test -
9دورية أكاديمية
المؤلفون: Meneret A, Depienne C, Riant F, Trouillard O, Bouteiller D, Cincotta M, Bitoun P, Wickert J, Lagroua I, Westenberger A, Borgheresi A, Doummar D, Romano M, Rossi S, Defebvre L, De Meirleir L, Espay AJ, Fiori S, Klebe S, Quelin C, Rudnik-Schoneborn S, Plessis G, Dale RC, Brooks SS, Dziezyc K, Pollak P, Golmard JL, Vidailhet M, Brice A, Roze E
المساهمون: Meneret, A, Depienne, C, Riant, F, Trouillard, O, Bouteiller, D, Cincotta, M, Bitoun, P, Wickert, J, Lagroua, I, Westenberger, A, Borgheresi, A, Doummar, D, Romano, M, Rossi, S, Defebvre, L, De Meirleir, L, Espay, Aj, Fiori, S, Klebe, S, Quelin, C, Rudnik-Schoneborn, S, Plessis, G, Dale, Rc, Brooks, S, Dziezyc, K, Pollak, P, Golmard, Jl, Vidailhet, M, Brice, A, Roze, E
العلاقة: info:eu-repo/semantics/altIdentifier/wos/WOS:000342818100014; volume:82; issue:22; firstpage:1999; lastpage:2002; numberofpages:4; journal:NEUROLOGY; http://hdl.handle.net/11568/1129158Test; info:eu-repo/semantics/altIdentifier/scopus/2-s2.0-84903954125
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10دورية أكاديمية
المؤلفون: Méneret, A., Depienne, C., Borgheresi, A., Doummar, D., Romano, M., Rossi, S., Defebvre, L., De Meirleir, L., Espay, A. J., Fiori, S., Klebe, S., Quélin, C., Riant, F., Rudnik-Schöneborn, S., Plessis, G., Dale, R. C., Sklower Brooks, S., Dziezyc, K., Pollak, P., Golmard, J. L., Vidailhet, M., Brice, A., Roze, E., Trouillard, O., Bouteiller, D., Cincotta, M., Bitoun, P., Wickert, J., Lagroua, I., Westenberger, A.
المصدر: Neurology 82(22), 1999-2002 (2014). doi:10.1212/WNL.0000000000000477
جغرافية الموضوع: DE
العلاقة: info:eu-repo/semantics/altIdentifier/issn/1526-632X; info:eu-repo/semantics/altIdentifier/wos/WOS:000342818100014; info:eu-repo/semantics/altIdentifier/issn/0028-3878; info:eu-repo/semantics/altIdentifier/pmid/pmid:24808016; https://publications.rwth-aachen.de/record/445521Test; https://publications.rwth-aachen.de/search?p=id:%22RWTH-CONV-088486%22Test